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Cellosaurus GM16643 (CVCL_BT38)

[Text version]
Cell line name GM16643
Accession CVCL_BT38
Resource Identification Initiative To cite this cell line use: GM16643 (RRID:CVCL_BT38)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3542; F5; Simple; p.Arg534Gln (c.1601G>A) (R506Q); ClinVar=VCV000000642; Zygosity=Heterozygous; Note=Factor V Leiden (Coriell=GM16643).
  • Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu102Asp (c.306G>C) (E101D); ClinVar=VCV000015317; Zygosity=Unspecified; Note=Hb Potomac (Coriell=GM16643).
Disease Hereditary factor V deficiency (NCIt: C98938)
Congenital factor V deficiency (ORDO: Orphanet_326)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 34Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16643
Cell line databases/resources CLO; CLO_0017362
Encyclopedic resources Wikidata; Q54848679
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number14